Aniridia

Common Name(s)

Aniridia

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).   Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome.

People with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.  Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

Aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aniridia" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

Last Updated: 12 Dec 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aniridia" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

http://www.wagr.org

Last Updated: 12 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aniridia" returned 106 free, full-text research articles on human participants. First 3 results:

Rare association of familial aniridia, microcornea with myopia and aphakia.
 

Author(s): Jaya Biswas, Asim Chakrabarti, Debabrata Das

Journal: Middle East Afr J Ophthalmol. ;21(3):268-70.

 

Aniridia is a rare congenital malformation that may be associated with various ocular and systemic manifestations. We describe two cases of familial total aniridia associated with microcornea, high myopia and dislocated lens. No systemic abnormality was noted in any of the cases.

Last Updated: 7 Aug 2014

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In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy.
 

Author(s): Neil Lagali, Ulla Edén, Tor Paaske Utheim, Xiangjun Chen, Ruth Riise, Anette Dellby, Per Fagerholm

Journal:

 

To investigate morphologic alterations in the limbal palisades of Vogt in a progressive form of limbal stem cell deficiency.

Last Updated: 8 Aug 2013

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Cataract development in Norwegian patients with congenital aniridia.
 

Author(s): Ulla Edén, Neil Lagali, Anette Dellby, Tor P Utheim, Ruth Riise, Xiangjun Chen, Per Fagerholm

Journal: Acta Ophthalmol. 2014 Mar;92(2):e165-7.

 

Last Updated: 4 Mar 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aniridia" returned 7 free, full-text review articles on human participants. First 3 results:

Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
 

Author(s): Naoki Shimo, Tetsuyuki Yasuda, Tetsuhiro Kitamura, Kenji Matsushita, Saeko Osawa, Yuichi Yamamoto, Junji Kozawa, Michio Otsuki, Tohru Funahashi, Akihisa Imagawa, Hideaki Kaneto, Kohji Nishida, Iichiro Shimomura

Journal: Intern. Med.. 2014 ;53(1):39-42.

 

We herein report the case of a woman with aniridia and with a heterozygous PAX6 mutation. Pax6 is a transcription factor involved in the development of several organs, including the eye, pancreas and pituitary. The patient had been diagnosed with aniridia in childhood and was found ...

Last Updated: 6 Jan 2014

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Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
 

Author(s): Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo de Marco, Guiseppe Damante, Robert Grainger, Veronica van Heyningen, Dirk A Kleinjan

Journal: Am. J. Hum. Genet.. 2013 Dec;93(6):1126-34.

 

The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene ...

Last Updated: 9 Dec 2013

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Aniridia.
 

Author(s): Melanie Hingorani, Isabel Hanson, Veronica van Heyningen

Journal: Eur. J. Hum. Genet.. 2012 Oct;20(10):1011-7.

 

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited ...

Last Updated: 20 Sep 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 14 Aug 2012

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Last Updated: 13 Nov 2014

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Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects
 

Status: Recruiting

Condition Summary: Full Aniridia; Partial Aniridia

 

Last Updated: 11 Sep 2014

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